C2750061[trait identifier] AND "Undiagnosed Diseases Network, NIH"[sub - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 870587	NM_000334.4(SCN4A):c.3403C>A (p.Arg1135Ser)	SCN4A, GH-LCR (R1135S)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 2	GLikely pathogenic
Select item 5919	NM_000334.4(SCN4A):c.2024G>A (p.Arg675Gln)	GH-LCR, SCN4A (R675Q)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +4 more	GPathogenic